A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5955164



Internal ID22730377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:219270703..219270703hg38UCSC Ensembl
chr2:220135425..220135425hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17407808
Samples
Known GenesTUBA4B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5955164
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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